rs80359530

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;CT)	6	Possible miscall in Ancestry data; otherwise, BRCA2 variant considered pathogenic for breast cancer
(-;CTCT)	6	Possible miscall in Ancestry data; otherwise, BRCA2 variant considered pathogenic for breast cancer
(CT;CT)	0	common in clinvar
(CTCT;CTCT)	0	common/normal

Make rs80359530(-;-)

Reference

GRCh38 38.1/142

Chromosome

13

Position

32340073

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359530
dbSNP (classic)	rs80359530
ClinGen	rs80359530
ebi	rs80359530
HLI	rs80359530
Exac	rs80359530
Gnomad	rs80359530
Varsome	rs80359530
LitVar	rs80359530
Map	rs80359530
PheGenI	rs80359530
Biobank	rs80359530
1000 genomes	rs80359530
hgdp	rs80359530
ensembl	rs80359530
geneview	rs80359530
scholar	rs80359530
google	rs80359530
pharmgkb	rs80359530
gwascentral	rs80359530
openSNP	rs80359530
23andMe	rs80359530
SNPshot	rs80359530
SNPdbe	rs80359530
MSV3d	rs80359530
GWAS Ctlg	rs80359530

Merged from

Rs80359531

Max Magnitude

6

rs80359530, also known as 5946delCT, c.5718_5719delCT and p.Asn1906_Ser1907=fs, and also c.5718_5721delCTCT, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359530(-;-)
Alt	rs80359530(-;-)
Reference	Rs80359530(CT;CT)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Familial cancer of breast
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Familial cancer of breast
Reversed	0
HGVS	NC_000013.10:g.32914214_32914215delCT
CLNSRC	Breast Cancer Information Core (BRCA2) OMIM Allelic Variant
CLNACC	RCV000009905.15, RCV000044728.8, RCV000131120.3, RCV000160297.4, RCV000461157.1,